Genetic analysis of three patients with an 18p− syndrome and dystonia

Klein, Christine; Page, Curtis E.; LeWitt, Peter A.; Gordon, Mark Forrest; Leon, Deborah de; Awaad, Yasser M.; Breakefield, X. O.; Brin, Mitchell F.; Ozelius, Laurie J.

doi:10.1212/wnl.52.3.649

Cited by 38 publications

(26 citation statements)

References 5 publications

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“…On the other hand, dystonia is a rare finding among these patients 5 . Up to now, only six cases have been reported, three associated with abnormalities of the white matter as in our patient 2,[6][7][8] . Cerebral abnormalities usually described in these individuals include agenesis of corpus callosum, holoprosencephaly and arhinocephaly 5 .…”

Section: Discussionmentioning

confidence: 57%

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion

Graziadio

Rosa

Zen

et al. 2009

Arq. Neuro-Psiquiatr.

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Dystonia is a clinically and genetically heterogeneous disorder of movement characterized by involuntary and sustained muscle contractions and rigid postures affecting one or more sites of the body. It can be classified according to the distribution of affected body parts, age of onset and etiology 1 . Up to now, at least 15 different loci (DYT1-DYT15) have been described in this condition 1,2 . Adult-onset idiopathic torsion dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer's cramp) has been associated with the DYT7 locus, located in the short arm of chromosome 18 [1][2][3] . Autoimmune diseases have been considered conditions associated with reactions of the immune system against selfantigens or body systems. They are disorders often associated with severe and chronic morbidity. In spite of recent advances, much of their etiology is still unknown 4 . We describe a rare case of a patient with 18p deletion syndrome presenting focal dystonia, Hashimoto thyroiditis, vitiligo and cerebral white matter abnormalities. CaSeThe patient is a 30 year old white woman, the fourth child of a non-consanguineous couple, without any history of similar cases in the family. The patient was born full-term, with a Cesarean section, after a pregnancy without intercurrences. During her first year of life, she had several episodes of infection (otitis and tonsillitis) as well as constipation where laxative use was needed. At 3 months, she had a convulsive crisis during fever. In relation to her neuropsychomotor development, the mother recalls she supported her own head at 6 months and pronounced her first words at the age of three. The patient was also unable to accompany normal school, failing several grades. After a long period without intercurrences, she began with blepharospasm together with cervical dystonia. She presented telarche at the age of 12 and menarche at 13, and at around 20 she began with menstrual irregularity. The hormonal evaluation conducted later diagnosed hypothyroidism due to Hashimoto thyroiditis.During the physical exam at the age of 30, she presented obesity (weighing 70 kg, between the 90-97 percentiles), short stature (149 cm, under the 3 percentile), brachycephaly, but without microcephalia (head circumference of 53 cm -between the 2-50 percentiles), rounded face, ocular hypertelorism (interpupillary distance higher than the 97 percentile), ptosis, blepharospasm, corneal opacification, hypoplasia of the middle third of the face, broad nasal bridge, high palate, short and broad neck, low posterior hairline, broad thorax and accentuated cervical kyphosis ( Figs 1A and B). She also had dextroconvex thoracic scoliosis, small hands and feet with hyperconvex nails (Figs 1C and D) and achromic spots of different sizes, spread about the body (thorax, dorsum and members), and vitiligo was diagnosed. The face remained in a fixed position, always turned to the right and downwards (Figs 1A and B). Nuclear magnetic resonance of the skull reveal...

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Section: Discussionmentioning

confidence: 57%

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion

Graziadio

Rosa

Zen

et al. 2009

Arq. Neuro-Psiquiatr.

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“…However, the present findings at least support the presence of a dystonic gene on chromosome 18, since patients with a deletion of the short arm of chromosome 18 (18pϪ syndrome) also show dystonic symptoms 37. …”

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confidence: 55%

Dystonia

Bhidayasiri

2006

The Neurologist

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Recent advances in molecular biology have led to the discovery of novel dystonia genes and loci, updating classification schemes, and better understanding of underlying pathophysiology. Treatment strategies for dystonia have significantly been updated with the introduction of different forms of botulinum toxin therapy, new pharmacologic agents, and most recently pallidal deep brain stimulation. A systematic approach to the diagnosis and treatment evaluation of dystonic patients provides optimal care for long-term management.

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“…We have identified 16 patients with 18p‐ syndrome and movement disorders (Table ). Dystonia was present in 15 of 16 patients . Ataxia without any dystonic feature was observed in a single patient.…”

Section: Resultsmentioning

confidence: 89%

Spectrum of Movement Disorders in 18p Deletion Syndrome

Crosiers

Blaumeiser

Goethem

2018

Movement Disord Clin Pract

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Background Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders. Methods The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome‐wide single‐nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders. Results We present a 41‐year‐old male patient with childhood‐onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients. Conclusion Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.

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Genetic analysis of three patients with an 18p− syndrome and dystonia

Cited by 38 publications

References 5 publications

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion

Dystonia

Spectrum of Movement Disorders in 18p Deletion Syndrome

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